R12
MCID: RNG007
MIFTS: 25

Ring Chromosome 12 (R12)

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 12

MalaCards integrated aliases for Ring Chromosome 12:

Name: Ring Chromosome 12 53 59
Chromosome 12 Ring 53 72
Ring 12 53 59
Ring Chromosome 12 Syndrome 59
Chromosome 12, Ring 29
R12 53

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.2
UMLS via Orphanet 73 C0795843
Orphanet 59 ORPHA1439
UMLS 72 C0795843

Summaries for Ring Chromosome 12

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1439DefinitionRing chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 12, also known as chromosome 12 ring, is related to vater/vacterl association and ring chromosome. Affiliated tissues include heart, breast and uterus, and related phenotypes are global developmental delay and abnormal facial shape

Related Diseases for Ring Chromosome 12

Graphical network of the top 20 diseases related to Ring Chromosome 12:



Diseases related to Ring Chromosome 12

Symptoms & Phenotypes for Ring Chromosome 12

Human phenotypes related to Ring Chromosome 12:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 obligate (100%) Obligate (100%) HP:0001263
2 abnormal facial shape 59 32 obligate (100%) Obligate (100%) HP:0001999
3 growth delay 59 32 obligate (100%) Obligate (100%) HP:0001510
4 clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0030084
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
7 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
8 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
9 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
10 microtia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008551
11 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
12 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
13 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
14 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
15 hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001028
16 secundum atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001684
17 dystrophic toenail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001810
18 lumbar hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002938
19 esotropia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000565
20 small for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001518
21 hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001007
22 glandular hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000807
23 uterine leiomyoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000131
24 syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001159
25 breast hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003187
26 symphalangism of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009656
27 abnormal 5th finger morphology 32 occasional (7.5%) HP:0004207
28 abnormality of the 5th finger 59 Occasional (29-5%)

Drugs & Therapeutics for Ring Chromosome 12

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 12

Genetic Tests for Ring Chromosome 12

Genetic tests related to Ring Chromosome 12:

# Genetic test Affiliating Genes
1 Chromosome 12, Ring 29

Anatomical Context for Ring Chromosome 12

MalaCards organs/tissues related to Ring Chromosome 12:

41
Heart, Breast, Uterus, Eye, Myeloid

Publications for Ring Chromosome 12

Articles related to Ring Chromosome 12:

(show all 27)
# Title Authors PMID Year
1
Large fatty acid-derived Aβ42 oligomers form ring-like assemblies. 38
30795679 2019
2
[Further Surgery for Mitral Stenosis 12-years after Mitral Valve Repair;Report of a Case]. 38
29755084 2018
3
Equatorial Assembly of the Cell-Division Actomyosin Ring in the Absence of Cytokinetic Spatial Cues. 38
29502950 2018
4
Facile Gold-Catalyzed Heterocyclization of Terminal Alkynes and Cyanamides Leading to Substituted 2-Amino-1,3-Oxazoles. 38
26135038 2015
5
Synthesis and structural characterization of Al-containing interlayer-expanded-MWW zeolite with high catalytic performance. 38
24798349 2014
6
Comparison of the axial stiffness of carbon composite and aluminium alloy circular external skeletal fixator rings. 38
23677120 2013
7
Alternative SAIL-Trp for robust aromatic signal assignment and determination of the χ(2) conformation by intra-residue NOEs. 38
21947837 2011
8
Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male. 38
20933620 2011
9
Imaging of congenital mesoblastic nephroma with pathological correlation. 38
19629463 2009
10
Ring chromosome 12 and severe oligospermia: a case report. 38
17880954 2008
11
Standardization of video-assisted cardiac surgery technique: initial experience. 38
18820780 2008
12
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12. 38
18005181 2008
13
Evaluation of chronic gastrointestinal symptoms following Persian Gulf War exposure. 38
16173212 2005
14
Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. 38
15930904 2005
15
Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature. 38
12599192 2003
16
N1-phenyl substituted 4-quinolones of tuberculostatic activity. 38
11817167 2001
17
Ex-vivo short-term culture and developmental assessment of Plasmodium vivax. 38
11816444 2001
18
17-Imidazolyl, pyrazolyl, and isoxazolyl androstene derivatives. Novel steroidal inhibitors of human cytochrome C17,20-lyase (P450(17 alpha). 38
9379450 1997
19
Acute myeloid leukemia with t(6;9) (p23;q34): association with myelodysplasia, basophilia, and initial CD34 negative immunophenotype. 38
9124211 1997
20
Estrogenic triarylethylene acetic acids: effect of structural variation on estrogen receptor affinity and estrogenic potency and efficacy in MCF-7 cells. 38
8941399 1996
21
Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review. 38
8725781 1996
22
Intrastromal corneal ring: 12-month sighted myopic eyes. 38
8963814 1996
23
Ring chromosome 12 resulting from nonrandom telomeric associations with the short arm of chromosome 15 in a cerebellar astrocytoma. 38
7504519 1993
24
Ring chromosome 12. 38
3354616 1988
25
Conformationally restricted retinoids. 38
6208361 1984
26
The syndrome of ring chromosome 12. 38
7395909 1980
27
Ring chromosome and latent centromeres. 38
7438790 1980

Variations for Ring Chromosome 12

Expression for Ring Chromosome 12

Search GEO for disease gene expression data for Ring Chromosome 12.

Pathways for Ring Chromosome 12

GO Terms for Ring Chromosome 12

Sources for Ring Chromosome 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....